A case of trisomy for the proximal portion of the long arm of chromosome 13 is described in a child who has a few congenital defects. This anomaly has been traced to a balanced 6/13 chromosomal translocation in the mother. A review of six cases, also trisomic for the proximal portion of the long arm, makes it possible to delineate a new clinical entity in which a small number of the clinical findings, commonly observed in the full trisomy 13, are present.
Escobar JI, Yunis JJ. Trisomy for the Proximal Segment of the Long Arm of Chromosome 13: A New Entity? Am J Dis Child. 1974;128(2):221–222. doi:10.1001/archpedi.1974.02110270095020
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